rs1057516064

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(G;G)	0	common in clinvar

Make rs1057516064(A;A)

Make rs1057516064(A;G)

Reference

GRCh38.p7 38.3/150

Chromosome

MT

Position

9237

Gene

COX3

is a	snp
is	mentioned by
dbSNP	rs1057516064
dbSNP (classic)	rs1057516064
ClinGen	rs1057516064
ebi	rs1057516064
HLI	rs1057516064
Exac	rs1057516064
Gnomad	rs1057516064
Varsome	rs1057516064
LitVar	rs1057516064
Map	rs1057516064
PheGenI	rs1057516064
Biobank	rs1057516064
1000 genomes	rs1057516064
hgdp	rs1057516064
ensembl	rs1057516064
geneview	rs1057516064
scholar	rs1057516064
google	rs1057516064
pharmgkb	rs1057516064
gwascentral	rs1057516064
openSNP	rs1057516064
23andMe	rs1057516064
SNPshot	rs1057516064
SNPdbe	rs1057516064
MSV3d	rs1057516064
GWAS Ctlg	rs1057516064

Max Magnitude

0

ClinVar
Risk	rs1057516064(A;A)
Alt	rs1057516064(A;A)
Reference	Rs1057516064(G;G)
Significance	Probable-Pathogenic
Disease	Developmental delay Mitochondrial encephalopathy Seizure Disorders
Variation	info
Gene	COX3
CLNDBN	Developmental delay Mitochondrial encephalopathy Seizure Disorders
Reversed	0
HGVS	NC_012920.1:m.9237G>A
CLNSRC
CLNACC	RCV000408945.1,